Nikola Letic

PSYC2070

2.19.2023

Prader Willi Syndrome

Name of the Genetic Abnormality:

PWS is caused by the loss of function of genes located on chromosome 15, specifically on the paternal
(father's) copy of the chromosome.

Causes:

In most cases, PWS is caused by a deletion of the paternal copy of chromosome 15. In other cases, the
syndrome is caused by two copies of the maternal chromosome 15 (known as maternal uniparental
disomy). Less commonly, PWS can be caused by abnormalities in the imprinting of the chromosome, or
by a defect in a specific gene on chromosome 15 called the SNRPN gene.

Diagnosis:

PWS can be diagnosed through genetic testing, which looks for the characteristic genetic abnormalities
associated with the condition. In some cases, a diagnosis may be suspected based on clinical features,
such as poor feeding and hypotonia (low muscle tone) in infancy, followed by insatiable appetite and
obesity in childhood.

Prevalence:

PWS is a rare genetic disorder, with an estimated prevalence of 1 in 10,000 to 30,000 individuals
worldwide.

Impact on the Child:

PWS can impact the child in a number of ways, both at birth and throughout their life. Infants with PWS
may experience poor feeding, hypotonia, and developmental delays. As they grow older, children with
PWS typically develop an insatiable appetite, which can lead to severe obesity and related health
problems. Other common features of PWS include intellectual disability, short stature, and behavioral
problems, such as temper tantrums and obsessive-compulsive tendencies.

Treatments:
There is currently no cure for PWS, and treatment is focused on managing symptoms and addressing
associated health problems. Early intervention and ongoing support from a team of healthcare
providers, including a pediatrician, endocrinologist, and dietitian, is essential. Treatment may include
growth hormone therapy, which can help improve height and body composition, as well as behavioral
therapies and medications to address the behavioral and psychiatric symptoms associated with PWS.

Life Expectancy:

Individuals with PWS typically have a normal life expectancy, although obesity-related health problems
can reduce life expectancy in some cases.

References:

National Organization for Rare Disorders. Prader-Willi Syndrome. https://rarediseases.org/rare-

diseases/prader-willi-syndrome/

Genetics Home Reference. Prader-Willi Syndrome. https://ghr.nlm.nih.gov/condition/prader-willi-

syndrome

Prader-Willi Syndrome Association USA. About PWS. https://www.pwsausa.org/about-pws/